Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Ppp1r3c'

345212

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r3c

Ensembl Gene

ENSMUSG00000067279

Gene Name

protein phosphatase 1, regulatory subunit 3C

Synonyms

protein targeting to glicogen, Ppp1r5, PTG

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4619 (G1)

Quality Score

164

Status

Validated

Chromosome

Chromosomal Location

36709131-36714004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36711743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 9 (V9E)

Ref Sequence

ENSEMBL: ENSMUSP00000084578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087321]

AlphaFold

Q7TMB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087321
AA Change: V9E

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084578
Gene: ENSMUSG00000067279
AA Change: V9E

Domain	Start	End	E-Value	Type
low complexity region	115	128	N/A	INTRINSIC
Pfam:CBM_21	151	257	5.5e-38	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice are embyronic lethal. Heterozygotes have reduced glycogen stores, attenuated glycogen synthesis, glucose intolerance, hyperinsulinemia and insulin resistance. Mice homozygous for a different knock-out allele exhibit normal lifespan with enhanced whole body insulin sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Snph	G	A	2: 151,436,434 (GRCm39)	Q96*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	probably damaging	Het

Other mutations in Ppp1r3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Ppp1r3c	APN	19	36,711,503 (GRCm39)	missense	probably damaging	1.00
IGL00486:Ppp1r3c	APN	19	36,711,324 (GRCm39)	missense	probably damaging	1.00
IGL01865:Ppp1r3c	APN	19	36,711,578 (GRCm39)	missense	probably benign	0.00
IGL02896:Ppp1r3c	APN	19	36,710,865 (GRCm39)	missense	probably benign	0.26
R0110:Ppp1r3c	UTSW	19	36,711,617 (GRCm39)	missense	possibly damaging	0.66
R0450:Ppp1r3c	UTSW	19	36,711,617 (GRCm39)	missense	possibly damaging	0.66
R0456:Ppp1r3c	UTSW	19	36,711,291 (GRCm39)	nonsense	probably null
R0469:Ppp1r3c	UTSW	19	36,711,617 (GRCm39)	missense	possibly damaging	0.66
R1539:Ppp1r3c	UTSW	19	36,711,361 (GRCm39)	missense	probably benign
R1859:Ppp1r3c	UTSW	19	36,711,011 (GRCm39)	missense	probably damaging	1.00
R2228:Ppp1r3c	UTSW	19	36,711,098 (GRCm39)	missense	probably benign
R2229:Ppp1r3c	UTSW	19	36,711,098 (GRCm39)	missense	probably benign
R4534:Ppp1r3c	UTSW	19	36,711,522 (GRCm39)	missense	probably damaging	1.00
R4535:Ppp1r3c	UTSW	19	36,711,522 (GRCm39)	missense	probably damaging	1.00
R4630:Ppp1r3c	UTSW	19	36,710,915 (GRCm39)	missense	probably benign	0.02
R6015:Ppp1r3c	UTSW	19	36,711,206 (GRCm39)	missense	probably damaging	1.00
R8206:Ppp1r3c	UTSW	19	36,710,846 (GRCm39)	missense	probably benign	0.10
R8386:Ppp1r3c	UTSW	19	36,711,338 (GRCm39)	missense	probably damaging	1.00
R8966:Ppp1r3c	UTSW	19	36,711,736 (GRCm39)	missense	probably benign	0.04
R9540:Ppp1r3c	UTSW	19	36,711,461 (GRCm39)	missense	probably benign	0.30
R9629:Ppp1r3c	UTSW	19	36,711,404 (GRCm39)	missense	probably benign	0.01
Z1177:Ppp1r3c	UTSW	19	36,711,318 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACTCACTCTGCGATTTGGC -3'
(R):5'- AGGCAGTTTACACATGGGC -3'

Sequencing Primer
(F):5'- GGCTTCCTGCTTGACACTGAG -3'
(R):5'- TGCACTGGAGTACTAGTG -3'

Posted On

2015-09-25